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Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy: a retrospective study
Träskilä, Emilia, Holopainen, Elina, Mäyränpää, Mikko I, Toppari, Jorma, Mäkitie, Outi, Laakso, Saila
Published in European journal of endocrinology (04.04.2023)
Published in European journal of endocrinology (04.04.2023)
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Journal Article
Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy
Ng, Wan-Fai, von Delwig, Alexei, Carmichael, Andrew J., Arkwright, Peter D., Abinun, Mario, Cant, Andrew J., Jolles, Stephen, Lilic, Desa
Published in Journal of allergy and clinical immunology (01.11.2010)
Published in Journal of allergy and clinical immunology (01.11.2010)
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Journal Article
Ocular features of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
Bari, Aafreen, Mahmood, Asjad, Chawla, Rohan, Sinha, Rajesh
Published in BMJ case reports (12.07.2023)
Published in BMJ case reports (12.07.2023)
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Journal Article
What is the burden of living with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) in 2012? A health-related quality-of-life assessment in Finnish patients
Kluger, Nicolas, Jokinen, Martta, Krohn, Kai, Ranki, Annamari
Published in Clinical endocrinology (Oxford) (01.07.2013)
Published in Clinical endocrinology (Oxford) (01.07.2013)
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Journal Article
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives
Cervato, Sara, Mariniello, Barbara, Lazzarotto, Francesca, Morlin, Luca, Zanchetta, Renato, Radetti, Giorgio, De Luca, Filippo, Valenzise, Mariella, Giordano, Roberta, Rizzo, Daniela, Giordano, Carla, Betterle, Corrado
Published in Clinical endocrinology (Oxford) (01.03.2009)
Published in Clinical endocrinology (Oxford) (01.03.2009)
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Journal Article
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Mazza, Cinzia, Buzi, Fabio, Ortolani, Federica, Vitali, Alberto, Notarangelo, Lucia D., Weber, Giovanna, Bacchetta, Rosa, Soresina, Annarosa, Lougaris, Vassilios, Greggio, Nella A., Taddio, Andrea, Pasic, Srdjan, de Vroede, Monique, Pac, Malgorzata, Kilic, Sara Sebnem, Ozden, Sanal, Rusconi, Roberto, Martino, Silvana, Capalbo, Donatella, Salerno, Mariacarolina, Pignata, Claudio, Radetti, Giorgio, Maggiore, Giuseppe, Plebani, Alessandro, Notarangelo, Luigi D., Badolato, Raffaele
Published in Clinical immunology (Orlando, Fla.) (01.04.2011)
Published in Clinical immunology (Orlando, Fla.) (01.04.2011)
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Journal Article
Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy: a retrospective study
Emilia Träskilä, Elina Holopainen, Mikko I Mäyränpää, Jorma Toppari, Outi Mäkitie, Saila Laakso
Published in European Journal of Endocrinology (14.03.2023)
Published in European Journal of Endocrinology (14.03.2023)
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Journal Article
Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Ng, Wan-Fai, von Delwig, Alexei, Carmichael, Andrew J, Arkwright, Peter D, Abinun, Mario, Cant, Andrew J, Jolles, Stephen, Lilic, Desa
Published in Journal of allergy and clinical immunology (01.11.2010)
Published in Journal of allergy and clinical immunology (01.11.2010)
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Journal Article
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation
Giordano, C., Modica, R., Allotta, M. L., Guarnotta, V., Cervato, S., Masiero, S., Giordano, R., Garelli, S., Betterle, C.
Published in Journal of endocrinological investigation (01.04.2012)
Published in Journal of endocrinological investigation (01.04.2012)
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Journal Article
Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians
Zaidi, G, Sahu, RP, Zhang, L, George, G, Bhavani, N, Shah, N, Bhatia, V, Bhansali, A, Jevalikar, G, Jayakumar, RV, Eisenbarth, GS, Bhatia, E
Published in Clinical genetics (01.11.2009)
Published in Clinical genetics (01.11.2009)
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Journal Article
Impaired T sub(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Ng, Wan-Fai, Von Delwig, Alexei, Carmichael, Andrew J, Arkwright, Peter D, Abinun, Mario, Cant, Andrew J, Jolles, Stephen, Lilic, Desa
Published in Journal of allergy and clinical immunology (01.11.2010)
Published in Journal of allergy and clinical immunology (01.11.2010)
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Journal Article
Impaired T H17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy
Ng, Wan-Fai, von Delwig, Alexei, Carmichael, Andrew J., Arkwright, Peter D., Abinun, Mario, Cant, Andrew J., Jolles, Stephen, Lilic, Desa
Published in Journal of allergy and clinical immunology (2010)
Published in Journal of allergy and clinical immunology (2010)
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Journal Article
Innate and adaptive immunity in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Perniola, R, Congedo, M, Rizzo, A, Damiani, A. Sticchi, Faneschi, M.L, Pizzolante, M, Lobreglio, G
Published in Mycoses (01.05.2008)
Published in Mycoses (01.05.2008)
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Journal Article
Impaired TH 17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy
Ng, Wan-Fai, MRCP, PhD, von Delwig, Alexei, MD, PhD, Carmichael, Andrew J., MBBS, FRCP, Arkwright, Peter D., MD, PhD, Abinun, Mario, MD, PhD, Cant, Andrew J., MD, PhD, Jolles, Stephen, MD, PhD, Lilic, Desa, MD, PhD
Published in Journal of allergy and clinical immunology (2010)
Published in Journal of allergy and clinical immunology (2010)
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Journal Article
Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
Perniola, R, Falorni, A, Clemente, MG, Forini, F, Accogli, E, Lobreglio, G
Published in European journal of endocrinology (01.10.2000)
Published in European journal of endocrinology (01.10.2000)
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Journal Article
Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects
Engelhardt, Karin R., Grimbacher, Bodo
Published in Journal of allergy and clinical immunology (01.02.2012)
Published in Journal of allergy and clinical immunology (01.02.2012)
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Journal Article
Profiling Autoantibodies against Salivary Proteins in Sicca Conditions
Burbelo, P.D., Ferré, E.M.N., Chaturvedi, A., Chiorini, J.A., Alevizos, I., Lionakis, M.S., Warner, B.M.
Published in Journal of dental research (01.07.2019)
Published in Journal of dental research (01.07.2019)
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Journal Article
Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED)
Klemetti, P., Björses, P., Tuomi, T., Perheentupa, J., Partanen, J., Rautonen, N., Hinkkanen, A., Ilonen, J., Vaarala, O.
Published in Clinical and experimental immunology (01.03.2000)
Published in Clinical and experimental immunology (01.03.2000)
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Journal Article
Novel Mutations of the Autoimmune Regulator Gene in Two Siblings with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Ishii, Tomohiro, Suzuki, Yoshimi, Ando, Naoki, Matsuo, Nobutake, Ogata, Tsutomu
Published in The journal of clinical endocrinology and metabolism (01.08.2000)
Published in The journal of clinical endocrinology and metabolism (01.08.2000)
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Journal Article